Results 141 to 150 of about 79,064 (227)

Ending the Diagnostic Odyssey: Making Whole-Exome/Genome Sequencing the First-Line Test for Global Developmental Delay

Annals of Child Neurology
openaire   +2 more sources

Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micropapillary Component. [PDF]

Genes (Basel)
Lee B, Joung JG, Park WY, Lee H, Cho EY.
europepmc   +1 more source

GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations

Movement Disorders, EarlyView.
Abstract Introduction GCH1 has been implicated in Parkinson's disease (PD), but its risks variants and associations are not well defined. Objectives Our goal was to investigate the clinical relevance and PD risk associated with the GCH1 p.Ser80Asn variant.
Yi Wen Tay, Andrew Leslie Lee, Jie Ping Schee, Chin‐Hsien Lin, Eng King Tan, Jung Hwan Shin, Pin‐Shiuan Chen, Sung‐Pin Fan, Cheng‐Hsuan Li, Ebonne Yu Lin Ng, Han Joon Kim, Beomseok Jeon, Sulev Koks, Huyen Thi Thanh Vu, Kin Ying Mok, Yi Ting Lim, Mohd Salahuddin Kamaruddin, Tzi Shin Toh, Hans Xing Ding, Anis Nadhirah Khairul Anuar, Norlisah Ramli, Ignacio J. Keller Sarmiento, Maria Teresa Periñan, Zih‐Hua Fang, Lara M. Lange, Kishore R. Kumar, Soraya Bardien, Joanne Trinh, Enza Maria Valente, SG10K_Health Consortium, the Global Parkinson's Genetics Program (GP2), Peter Heutink, Katja Lohmann, Christine Klein, Niccolò E. Mencacci, Shen‐Yang Lim, Azlina Ahmad‐Annuar, Ai Huey Tan   +37 more
wiley   +1 more source

Neonatal nemaline myopathy associated with NEB variants and a favorable 3-year outcome: A case report. [PDF]

Medicine (Baltimore)
Liu Z, Luo Y, Li G, Li R, Cao X.
europepmc   +1 more source

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

A novel <i>CD40LG</i> frameshift mutation in an Iranian family with X-linked hyper-IgM syndrome: A case report. [PDF]

Mol Genet Metab Rep
Farzi F, Panahi M, Sakhinia E, Alizadeh E.   +3 more
europepmc   +1 more source

Optimizing Genetic Analyses for Movement Disorders: A Unified Panel Approach and Targeted Reanalysis of 4,046 Clinical Exomes

Movement Disorders, EarlyView.
Abstract Background Molecular testing for genetic movement disorders (MDs) increasingly relies on exome‐ or genome‐based virtual gene panels. In the absence of consensus guidelines, MD panel design remains heterogeneous across laboratories, with international variation in panel configuration and gene content.
Teodora Barbarii, Sanne P. Smeekens, Maartje Pennings, Galuh Astuti, Lisenka E.L.M. Vissers, Helger G. Yntema, Christian Gilissen, Bart van de Warrenburg, Erik‐Jan Kamsteeg   +8 more
wiley   +1 more source

Genetic variants at immunoglobulin and mitochondrial loci associated with chronic hypercapnia in chronic obstructive pulmonary disease. [PDF]

Am J Respir Cell Mol Biol
Boersma R, Faiz A, Rowntree R, Raveling T, Guryev V, Türk M, Gosens R, van den Berge M, Wijkstra PJ, Duiverman ML.   +9 more
europepmc   +1 more source

Senotherapeutics for Knee Osteoarthritis

Medicinal Research Reviews, EarlyView.
ABSTRACT Osteoarthritis (OA) is a chronic disease that imposes a significant economic burden and deteriorates quality of life. Nevertheless, current therapeutic options for OA are limited to symptomatic remedies. As such, there is a high interest in novel methods for treating or preventing OA.
Ezgi Duman, Girish Pattappa, Patrick Pann, Stephan Reppenhagen, Maximilian Rudert, Peter Angele, Denitsa Docheva   +6 more
wiley   +1 more source

Cross-Cultural Adaptation of the University of North Carolina Genomic Knowledge Scale: Translation and Psychometric Validation in Japanese Populations. [PDF]

J Genet Couns
Hadano N, Koto Y, Sakai N.
europepmc   +1 more source